All variants in the DPYD gene

Information The variants shown are described using the NM_000110.3 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 13 c.1679T>G r.(?) p.(Ile560Ser) DPYD*13 - pathogenic g.97981343A>C g.97515787A>C - - DPYD_000016 reference haplotype DPYD*13 [1679T>G]; no activity PubMed: Johnson 2002 - rs55886062 Germline - - - 0 - Johan den Dunnen
+/. 13 c.1679T>G r.(?) p.(Ile560Ser) DPYD*13 - pathogenic g.97981343A>C g.97515787A>C - - DPYD_000016 - PubMed: Johnson 2002 - - Germline yes - - 0 - Johan den Dunnen
+/. 13 c.1679T>G r.(?) p.(Ile560Ser) DPYD*13 - pathogenic g.97981343A>C g.97515787A>C I560S - DPYD_000016 - PubMed: Johnson 2002 - - Germline yes - - 0 - Johan den Dunnen
+/. 13 c.1679T>G r.(?) p.(Ile560Ser) - - benign (!) g.97981343A>C g.97515787A>C - - DPYD_000016 DPD enzyme activity 0.40; for carriers suggested initial fluoropyrimidine drug dose reduction by 0.50 PubMed: Henricks 2018 - rs55886062 SUMMARY record - - - 0 - Johan den Dunnen
+/. 13 c.1679T>G r.(?) p.(Ile560Ser) - - benign (!) g.97981343A>C g.97515787A>C - - DPYD_000016 - PubMed: Henricks 2018 - - Germline - 1/1103 patients - 0 - Johan den Dunnen
+?/. - c.1679T>G r.(?) p.(Ile560Ser) - - likely pathogenic g.97981343A>C g.97515787A>C DPYD(NM_000110.3):c.1679T>G (p.I560S) - DPYD_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1679T>G r.(?) p.(Ile560Ser) - - pathogenic g.97981343A>C g.97515787A>C DPYD(NM_000110.3):c.1679T>G (p.I560S) - DPYD_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1679T>G r.(?) p.(Ile560Ser) - - pathogenic g.97981343A>C - DPYD(NM_000110.3):c.1679T>G (p.I560S) - DPYD_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
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